Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Disease ID: disease_node_20000
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| Dbxref | MIM:615722, ORDO:401777 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | BBSOAS, optic atrophy-intellectual disability syndrome |
| Doid Label | Bosch-Boonstra-Schaaf optic atrophy syndrome |
| Doid Description | A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20000 |
| Doid Id | DOID_0112226 |
| Label | Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)